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Article

A whole-genome sequencing-based novel preimplantation genetic testing method for de novo mutations combined with chromosomal balanced translocations.

Journal of assisted reproduction and genetics - 1 Oct 2020

Yuan Ping, Xia Jun, Ou Songbang, Liu Ping, Du Tao, Zheng Lingyan, Yin Xuyang, Xie Lin, Zhang Sijia, Yan Huijuan, Gao Ya, Zhang Qingxue, Jiang Hui, Chen Fang, Wang Wenjun

Abstract excerpt

PURPOSE: To explore a new preimplantation genetic testing (PGT) method for de novo mutations (DNMs) combined with chromosomal balanced translocations by whole-genome sequencing (WGS) using the MGISEQ-2000 sequencer. METHODS: Two families, one with maternal Olmsted syndrome caused by DNM (c.1246C>T) in TRPV3 and a paternal Robertsonian translocation and one with paternal Marfan syndrome caused by DNM...

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Identifiers

PMID: 32783137
DOI: 10.1007/s10815-020-01921-4
PMCID: PMC7550397

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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